This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
人 KIF1B (NM_015074) cDNA克隆
| Accession: | NM_015074 |
|---|---|
| 基因名称: | KIF1B |
| 基因别名: | KLP; CMT2; CMT2A; CMT2A1; HMSNII; NBLST1 |
| 基因描述: | Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. |
| 种属: | Human |
| CDS区长度: | 5313 (查看编码区序列) |
| 翻译后氨基酸长度: | 1770 (查看氨基酸序列) |
| Transcript Variant: | This variant (1) represents the longer transcript and it encodes the longer protein (isoform b). Isoform b is also called KIF1b-beta. |
| 人 KIF1B (NM_015074) cDNA克隆 | transcript variant 1 |
| 人 KIF1B (NM_183416) cDNA克隆 | transcript variant 2 |
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